Mutations in FEZF1 cause Kallmann syndrome (Q34146811)

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16 February 2020

title

Mutations in FEZF1 cause Kallmann syndrome (English)

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16 February 2020

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16 February 2020

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16 February 2020

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16 February 2020

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16 February 2020

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16 February 2020

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16 February 2020

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16 February 2020

A Kemal Topaloglu

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Yusuf Ozkan

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16 February 2020

Fatma Demirel

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16 February 2020

Hudson Stoner

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16 February 2020

Ihsan Esen

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16 February 2020

Y Kenan Bicakci

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16 February 2020

language of work or name

English

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publication date

1 September 2014

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American Journal of Human Genetics

16 February 2020

published in

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volume

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issue

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page(s)

326-331

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Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

16 February 2020

cites work

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Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

Fezf1 and Fezf2 are required for olfactory development and sensory neuron identity

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

Molecular causes of hypogonadotropic hypogonadism.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

Zinc finger genes Fezf1 and Fezf2 control neuronal differentiation by repressing Hes5 expression in the forebrain

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

Human genetic disorders of axon guidance

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

Fezf1 is required for penetration of the basal lamina by olfactory axons to promote olfactory development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

Formation and patterning of the forebrain and olfactory system by zinc-finger genes Fezf1 and Fezf2.

5 July 2018

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The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.

5 July 2018

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Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

5 July 2018

1 reference

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From nose to fertility: the long migratory journey of gonadotropin-releasing hormone neurons.

5 July 2018

1 reference

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Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

5 July 2018

1 reference

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The nonsense-mediated decay RNA surveillance pathway

5 July 2018

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Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

Zinc-finger gene Fez in the olfactory sensory neurons regulates development of the olfactory bulb non-cell-autonomously

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

A window of opportunity: the diagnosis of gonadotropin deficiency in the male infant

5 July 2018

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Zinc finger proteins: getting a grip on RNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

Development of the University of Pennsylvania Smell Identification Test: a standardized microencapsulated test of olfactory function.

5 July 2018

1 reference

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Axon guidance and the patterning of neuronal projections in vertebrates

5 July 2018

1 reference

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Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode

5 July 2018

1 reference

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Origin of luteinizing hormone-releasing hormone neurons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

Identification of an olfactory signal molecule that activates the central regulator of reproduction in goats

5 July 2018

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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

Emx1 and Emx2 functions in development of dorsal telencephalon.

28 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145

10.1016/J.AJHG.2014.08.006

28 October 2018

Identifiers

DOI

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16 February 2020

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16 February 2020

PubMed publication ID

25192046

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